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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:platelet-type bleeding disorder 17
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Accession:DOID:0111049 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: BDPLT17;   hereditary thrombasthenia-thrombocytopenia
 primary_id: MESH:C566060
 alt_id: OMIM:187900
 xref: NCI:C142084;   NCI:C84741
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 ClinVar
OMIM
PMID:1065298, PMID:5681484, PMID:23927492, PMID:28041820 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        blood coagulation disease 623
          Inherited Blood Coagulation Disease 102
            platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          blood coagulation disease 623
            hemorrhagic disease 610
              blood platelet disease 291
                Glanzmann's thrombasthenia 5
                  platelet-type bleeding disorder 17 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.